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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
SPTSSA - Serine Palmitoyltransferase Small Subunit A
Alias:
SSSPTA
C14orf147
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
丝氨酸棕榈酰转移酶(SPT;EC 2.3.1.50)是鞘糖脂生物合成中的第一个限定步骤和限速步骤。SSSPTA是一个小的SPT亚基,刺激SPT活性,并将酰基CoA偏好赋予SPT的催化异源二聚体,该二聚体由SPTLC1(MIM 605712)和SPTLC2(MIM 605713)或SPTLC3(MIM 611120)组成(Han等人,2009年[PubMed 19416851])。[由OMIM于2010年11月提供]
Related ID:
NCBI:171546
ENSEMBL:ENSG00000165389
HGNC:20361
UNIPROT:Q969W0
OMIM:613540
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
171546
1
2
29453 bp
8.47
5
2
3
7
SPTSSA Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Type
Name
MGI
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Mutations
No data available
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CAS Number
Status
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No data available
References Literature
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